Proteins are probably the most important class of material in the body. Proteins are not just building blocks for muscles, "connective tissues", skin, and other structures. They also are needed to make enzymes. Enzymes are complex proteins that control and carry out nearly all chemical processes and reactions within the body. The body produces thousands of different enzymes. Thus, the entire structure and function of the body is governed by the types and amounts of proteins the body synthesizes. Protein synthesis is controlled by genes, which are contained on chromosomes.  View or Download The Human Genome Landmarks Poster

 

Mark Hyman believes that functional medicine is the way of the future, and that we can only improve medicine if we understand the body's system, not just symptoms.  Video:  https://www.youtube.com/watch?v=IhkLcpJTV9M

 

 

The nutrients we extract from food enter metabolic pathways where they are manipulated, modified, and molded into molecules the body can use. One such pathway is responsible for making methyl groups - important epigenetic tags that silence genes.

 

 

Granulomatosis with polyangiitis (Wegener's)

Granulomatosis with polyangiitis (Wegener's) (GPA) is a severe, multisystem inflammatory disease with a prevalence of ∼1 in 10,000–40,000 persons of European ancestry (1).  The contribution of many common genetic variants to the risk of more common autoimmune diseases, such as rheumatoid arthritis (RA), type 1 diabetes, and inflammatory bowel disease, has been established through genome‐wide association studies (GWAS) and meta‐analyses of the data from these studies (1).  Early diagnosis and treatment of granulomatosis with polyangiitis might lead to a full recovery. Without treatment, the condition can be fatal. 

 

 Source:

1.  Meta‐analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis.
Sharon A. Chung, et al.  Arthritis and Rheumatology. Volume64, Issue10, October 2012, Pages 3463-3471

2.   Wegener's Granulomatosis: Clinical Manifestations, Differential Diagnosis, and Management of Ocular and Systemic Disease
Ahmad B. Tarabishy, et al., Survey of Ophthalmology, VOLUME 55, ISSUE 5, P429-444, SEPTEMBER 01, 2010

 

Pseudoporphyria (PP) and Eye Color Genes

Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation.(1)  Blue-eyed people share a common ancestor, presumably 600010,000 years ago.(5)

Pseudoporphyria (PP) is characterized by erythema, skin fragility, blister formation, and scarring on photoexposed skin.There was a prevalence of pseudoporphyria of 10.9% in children with JIA treated with NSAIDs. Blue/gray eye color was a risk factor for the development of PP and naproxen was the most commonly implicated drug, independent of the dose. We recommend that NSAIDs be prescribed with caution for those JIA patients with blue/gray eyes to prevent disfiguring facial scarring.(6)

Source:

1.  Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.  Eiberg, H., Troelsen, J., Nielsen, M. et al. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet 123, 177–187 (2008).

2.  The 10,000 Year Explosion: How Civilization Accelerated Human Evolution. Gregory Cochran, Henry Harpending.   (pg 18)

3.  Genetic determinants of hair, eye and skin pigmentation in Europeans.  Patrick Sulem, et al., VOLUME 39 [NUMBER 12] DECEMBER 2007 NATURE GENETICS

4.  IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information.  Walsh, F. Liu, K. Ballantyne, M. van Oven, O. Lao, M. Kayser.  Forensic Sci. Int. Genet., 5 (2011), pp. 170-180

5.  Iris Genetics. In: The Iris. Moazed K.T. (2020), Springer

6.  Pseudoporphyria and Nonsteroidal Antiinflammatory Agents in Children with Juvenile Idiopathic Arthritis.  Pediatric Dermatology Vol. 17 No. 6 480–483, 2000

 

 BLAST: Basic Local Alignment Search Tool
[Search domain blast.ncbi.nlm.nih.gov/Blast.cgi] https://blast.ncbi.nlm.nih.gov/Blast.cgi
The Basic Local Alignment Search Tool (BLAST) finds regions of local similarity between sequences. The program compares nucleotide or protein sequences to sequence databases and calculates the statistical significance of matches. BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families.

https://blast.ncbi.nlm.nih.gov/Blast.cgi